Article
A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.
Breast cancer research and treatment - 1 Nov 2009
Bogdanova Natalia, Cybulski Cezary, Bermisheva Marina, Datsyuk Ihor, Yamini Paria, Hillemanns Peter, Antonenkova Natalja Nikolaevna, Khusnutdinova Elza, Lubinski Jan, Dörk Thilo
Abstract excerpt
Blood relatives of patients with ataxia-telangiectasia (A-T) have an increased risk to develop breast cancer. Allelic heterogeneity has made it difficult to confirm the role of ATM, the gene mutated in A-T, for breast cancer susceptibility in the general population. We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern...
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